ClinVar Miner

List of variants in gene DYNC1H1, LOC126862060 studied for Intellectual disability, autosomal dominant 13

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_001376.5(DYNC1H1):c.8929C>T (p.Arg2977Trp) rs2503804194
NM_001376.5(DYNC1H1):c.8945G>A (p.Arg2982His) rs2048463341
NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser) rs2152589131
NM_001376.5(DYNC1H1):c.9092C>T (p.Thr3031Met) rs879253956
NM_001376.5(DYNC1H1):c.9209C>T (p.Pro3070Leu) rs2152589194
NM_001376.5(DYNC1H1):c.9286G>A (p.Asp3096Asn) rs2503805793
NM_001376.5(DYNC1H1):c.9382G>T (p.Val3128Phe) rs775083305
NM_001376.5(DYNC1H1):c.9436A>G (p.Ser3146Gly) rs2048470658

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